Genetics


Autism Profiles Different Diagnosed Early from Later On

A study shows that autism diagnosed earlier versus later in life may reflect different developmental pathways and genetic profiles. In longitudinal data from four birth cohorts, there were two distinct socioemotional and behavioral trajectories tied to age at autism diagnosis. Genetic factors explained about 11% of the variation in when […]


Prevailing Perspective of Processed/Red Meat and CAD/T2D Challenged

A Mendelian randomization (MR) analysis did not find sufficient evidence to support a causal relationship between red/processed meat consumption and cardiovascular disease (CAD), hypertension, stroke, and type 2 diabetes (T2D). The analysis used data of publicly published genome-wide association studies. The inverse-variance weighted analyses revealed no causal association between the […]


Genetic Association of Lipid Metabolism with Aortic Aneurysms

A mendelian randomization (MR) study provides causal evidence for the genetic association of lipid metabolism with aortic aneurysms. By using expression quantitative trait loci (eQTLs) related to drug-target genes and SNPs (single nucleotide polymorphisms) located near or within the drug-target loci associated with low-density lipoprotein cholesterol (LDL-C) as proxies for […]


Prevalence and Clinical Significance of DNA Variants Predisposing to Cardiomyopathy

A genetic association study indicates that 0.7% of participants harbor a pathogenic variant related to inherited cardiomyopathy and are at increased risk of cardiovascular disease (CVD) and all-cause mortality. The study included 9667 US participants (mean age 54.0 years; 43.8% women; 27.5% African and 72.5% European ancestry) and 49 744 UK […]


Healthy Lifestyle May Lower Genetic Cancer Risk

The analysis of genetic and lifestyle factors with cancer incidence in a general-population cohort suggested that genetic cancer risk may be reduced by adopting a healthy lifestyle. An incidence-weighted overall cancer polygenic risk score (CPRS) was constructed based on 20 cancer site-specific polygenic risk scores. Lifestyle was determined according to […]


BD’s Polygenic Genetic Architecture

A genome-wide study of bipolar disorder (BD) revealed an extensive polygenic genetic architecture of the disease, implicate brain calcium channels and neurotransmitter function in BD etiology, and confirmed that BD is part of a spectrum of highly correlated psychiatric and mood disorders. The study included 20,352 cases and 31,358 controls […]


Complex Genetic Roots of Depression

A meta-analysis of genome-wide association studies of depression identified 102 independent variants, 269 genes, and 15 genesets associated with depression, including both genes and gene pathways associated with synaptic structure and neurotransmission. The analysis included 807,553 individuals (246,363 cases and 561,190 controls). An enrichment analysis provided further evidence of the […]


Genetics May Influence the Effects of Vitamin E

A US study suggested that genetic variations may be at play with vitamin E, increasing cancer risk in some individuals while decreasing risk for others. Multiple pathways may link the enzyme catechol-O-methyltransferase (COMT) to the vitamin E supplement, alpha-tocopherol, and cancer. The most extensively studied variant in COMT comes in […]